Varaico: Literature-Extracted Genetic Variants

Gene:PPOX
Variant:p.V257delFs
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PPOX

NM_001122764.3:p.V257delFs

Associated Papers

Plasma fluorescence scanning did not detect latent variegate porphyria in nine patients with non-p.R59W mutations.

Sies CW et al.

Pathology, 2005

Kinetic and physical characterisation of recombinant wild-type and mutant human protoporphyrinogen oxidases.

Maneli MH et al.

Biochimica Et Biophysica Acta, 2003

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."